Varaico: Literature-Extracted Genetic Variants

MSH6

3,286 papers

RefSeq Summary

This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of a...

Pfam Domains

PWWPaa 1–85UCSCPWWP domain

MutS_Iaa 308–427UCSCMutS domain I

MutS_IIaa 438–604UCSCMutS domain II

MutS_IIIaa 639–965UCSCMutS domain III

MutS_IVaa 833–925UCSCMutS family domain IV

MutS_Vaa 1031–1225UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 6

HGNC Previous Symbol

GTBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_000179.3

p.H1248D

c.3742C>G

Surrounding Variants

1 paper

NM_000179.3

p.H1248Y

c.3742C>T

2 papers

NM_000179.3

p.H1248delFs

c.3743delA

2 papers

NM_000179.3

p.H1248fs

c.3742_3743fs

7 papers

NM_000179.3

p.H1248insFs

c.3743_3744insT

2 papers

NM_000179.3

p.H1248R

c.3743A>G

1 paper

NM_000179.3

p.H1248_V1253del6

c.3742_3758del18

1 paper

NM_000179.3

p.T1247I

c.3740C>T

3 papers

NM_000179.3

p.Y1249_L1252delFs

c.3747_3756del10

2 papers

NM_000179.3

p.H1248_Q1258ins3

c.3744_3773dup30

5 papers

NM_000179.3

p.H1248_Q1258del0

c.3744_3773del30

1 paper

NM_000179.3

p.Y1249_H1250insFs

c.3746_3749dup4

4 papers

NM_000179.3

p.Y1249fs

c.3745_3746fs