Varaico: Literature-Extracted Genetic Variants

TLN1

235 papers

RefSeq Summary

This gene encodes a cytoskeletal protein that is concentrated in areas of cell-substratum and cell-cell contacts. The encoded protein plays a significant role in the assembly of actin filaments and in...

Pfam Domains

FERM_f0aa 4–83UCSCN-terminal or F0 domain of Talin-head FERM

FERM_Maa 201–313UCSCFERM central domain

IRSaa 313–400UCSCPTB domain (IRS-1 type)

Talin_middleaa 491–652UCSCTalin, middle domain

Talin_IBS2Baa 649–757UCSCTalin IBS2B domain

Talin_VBS2aa 794–909UCSCTalin VBS2 domain

Gene Aliases

HGNC Name

talin 1

HGNC Alias Symbol

ILWEQ

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_006289.4

p.T585M

c.1754C>T

Surrounding Variants

1 paper

NM_006289.4

p.V577D

c.1730T>A

1 paper

NM_006289.4

p.A572T

c.1714G>A

1 paper

NM_006289.4

p.A566_D569del4

c.1696_1706del12

1 paper

NM_006289.4

p.R606W

c.1816C>T

1 paper

NM_006289.4

p.A555V

c.1664C>T

1 paper

NM_006289.4

p.G645D

c.1934G>A

1 paper

NM_006289.4

p.L522delFs

c.1564delG

1 paper

NM_006289.4

p.D517G

c.1550A>G

1 paper

NM_006289.4

p.Q479H

c.1437G>T

1 paper

NM_006289.4

p.Q479H

c.1437G>C

1 paper

NM_006289.4

p.Q479R

c.1436A>G

1 paper

NM_006289.4

p.K428Splc

c.1283+5G>A