Varaico: Literature-Extracted Genetic Variants

GTF2IRD1

109 papers

RefSeq Summary

The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and fu...

Pfam Domains

GTF2Iaa 128–202UCSCGTF2I-like repeat

GTF2Iaa 351–425UCSCGTF2I-like repeat

GTF2Iaa 565–639UCSCGTF2I-like repeat

GTF2Iaa 705–779UCSCGTF2I-like repeat

GTF2Iaa 802–876UCSCGTF2I-like repeat

Gene Aliases

HGNC Name

GTF2I repeat domain containing 1

HGNC Previous Symbol

WBSCR11

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005685.4

p.V57M

c.169G>A

Surrounding Variants

1 paper

NM_005685.4

p.F63_V64insFs

c.189_190ins4

1 paper

NM_005685.4

p.K47R

c.140A>G

1 paper

NM_005685.4

p.S46F

c.137C>T

1 paper

NM_005685.4

p.K69M

c.206A>T

1 paper

NM_005685.4

p.G70E

c.209G>A

1 paper

NM_005685.4

p.F84L

c.250T>C

1 paper

NM_005685.4

p.F84L

c.252C>A

1 paper

NM_005685.4

p.F84L

c.252C>G

1 paper

NM_005685.4

p.G111R

c.331G>C

1 paper

NM_005685.4

p.R129W

c.385C>T

1 paper

NM_005685.4

p.V135M

c.403G>A

1 paper

NM_005685.4

p.L139I

c.415C>A