Varaico: Literature-Extracted Genetic Variants

GAS6

114 papers

RefSeq Summary

This gene encodes a gamma-carboxyglutamic acid (Gla)-containing protein thought to be involved in the stimulation of cell proliferation. This gene is frequently overexpressed in many cancers and has b...

Pfam Domains

Glaaa 53–93UCSCVitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain

cEGFaa 177–200UCSCComplement Clr-like EGF-like

hEGFaa 207–227UCSCHuman growth factor-like EGF

EGF_CAaa 238–277UCSCCalcium-binding EGF domain

Laminin_G_1aa 325–454UCSCLaminin G domain

Laminin_G_2aa 513–651UCSCLaminin G domain

Gene Aliases

HGNC Name

growth arrest specific 6

HGNC Previous Symbol

AXLLG

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000820.4

p.L421L

c.1263G>C

Surrounding Variants

1 paper

NM_000820.4

p.L421M

c.1261C>A

1 paper

NM_000820.4

p.L416_Y417delFs

c.1248_1249delAC

1 paper

NM_000820.4

p.Y417H

c.1249T>C

1 paper

NM_000820.4

p.R397S

c.1191G>T

1 paper

NM_000820.4

p.R397S

c.1191G>C

1 paper

NM_000820.4

p.N390D

c.1168A>G

1 paper

NM_000820.4

p.A388G

c.1163C>G

1 paper

NM_000820.4

p.S383F

c.1148C>T

1 paper

NM_000820.4

p.T381_I382Splc

c.1144-20A>C

6 papers

NM_000820.4

p.C444C

c.1332C>T

1 paper

NM_000820.4

p.S447I

c.1340G>T

1 paper

NM_000820.4

p.T474M

c.1421C>T