Varaico: Literature-Extracted Genetic Variants

Gene:TAF1
Variant:p.D1345N

TAF1

283 papers

RefSeq Summary

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is the basal transcription factor TFIID, which bind...

Pfam Domains

TBP-bindingaa 24–86UCSCTATA box-binding protein binding
DUF3591aa 586–1049UCSCProtein of unknown function (DUF3591)
zf-CCHC_6aa 1282–1323UCSCZinc knuckle
zf-CCHC_6aa 1282–1323UCSCZinc knuckle
Bromodomainaa 1410–1493UCSCBromodomain
Bromodomainaa 1531–1616UCSCBromodomain

Gene Aliases

HGNC Name

TATA-box binding protein associated factor 1

HGNC Previous Symbols

TAF2A; BA2R; CCG1; CCGS; DYT3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138923.4
p.D1345N
c.4033G>A
Surrounding Variants
1 paper
NM_004606.5
p.K1355R
c.4064A>G
4 papers
NM_004606.5
p.L1351H
c.4052T>A
1 paper
NM_004606.5
p.L1351R
c.4052T>G
1 paper
NM_004606.5
p.L1351V
c.4051C>G
1 paper
NM_004606.5
p.Q1350_P1353delFs
c.4050_4057del8
4 papers
NM_004606.5
p.V1337A
c.4010T>C
NM_138923.4
p.V1316A
c.3947T>C
1 paper
NM_004606.5
p.H1376P
c.4127A>C
1 paper
NM_004606.5
p.R1379H
c.4136G>A
1 paper
NM_004606.5
p.T1385M
c.4154C>T
1 paper
NM_004606.5
p.D1399V
c.4196A>T
1 paper
NM_004606.5
p.N1411delFs
c.4232delA
1 paper
NM_004606.5
p.R1424W
c.4270C>T
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