Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000051.4

p.Q1839R

c.5516A>G

Surrounding Variants

19 papers

NM_000051.4

p.Q1839*

c.5515C>T

1 paper

NM_000051.4

p.T1840I

c.5519C>T

2 papers

NM_000051.4

p.C1838Y

c.5513G>A

2 papers

NM_000051.4

p.C1838R

c.5512T>C

1 paper

NM_000051.4

p.C1838G

c.5512T>G

2 papers

NM_000051.4

p.C1838fs

c.5512_5513fs

1 paper

NM_000051.4

p.C1838fs

c.5512_5513fs

2 papers

NM_000051.4

p.V1841I

c.5521G>A

2 papers

NM_000051.4

p.F1837L

c.5511T>A

2 papers

NM_000051.4

p.F1837L

c.5511T>G

1 paper

NM_000051.4

p.Q1839_V1841insFs

c.5515_5522dup8

1 paper

NM_000051.4

p.L1842_P1843delFs

c.5524_5527del4