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

2 papers

NM_000179.3

p.R988H

c.2963G>A

Surrounding Variants

1 paper

NM_000179.3

p.R988insFs

c.2964dupC

2 papers

NM_000179.3

p.R988L

c.2963G>T

1 paper

NM_000179.3

p.N989insFs

c.2966dupA

2 papers

NM_000179.3

p.R988fs

c.2962_2963fs

3 papers

NM_000179.3

p.R988C

c.2962C>T

1 paper

NM_000179.3

p.N989_P991del3

c.2965_2972del9

1 paper

NM_000179.3

p.N989fs

c.2965_2966fs

1 paper

NM_000179.3

p.N989fs

c.2965_2966fs

1 paper

NM_000179.3

p.T987T

c.2961T>C

3 papers

NM_000179.3

p.N989S

c.2966A>G

1 paper

NM_000179.3

p.T987insFs

c.2961dupT

1 paper

NM_000179.3

p.T987fs

c.2959_2960fs