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

1 paper

NM_000179.3

p.D938fs

c.2812_2813fs

Surrounding Variants

1 paper

NM_000179.3

p.D938G

c.2813A>G

1 paper

NM_000179.3

p.Y937*

c.2811T>A

1 paper

NM_000179.3

p.Y937*

c.2811T>G

1 paper

NM_000179.3

p.D938delFs

c.2812delG

1 paper

NM_000179.3

p.Q939K

c.2815C>A

12 papers

NM_000179.3

p.Q939*

c.2815C>T

1 paper

NM_000179.3

p.Y937H

c.2809T>C

1 paper

NM_000179.3

p.Q939_D943delFs

c.2817_2829del13

2 papers

NM_000179.3

p.Q939_A940delins

c.2817_2818delinsGT

1 paper

NM_000179.3

p.D936_Y937delFs

c.2808_2809delTT

1 paper

NM_000179.3

p.D936_Y937Fs

c.2807_2809delinsCFs

1 paper

NM_000179.3

p.D936_Y937delFs

c.2808_2811del4