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.E919D

c.2757A>C

Surrounding Variants

1 paper

NM_000179.3

p.E919D

c.2757A>T

1 paper

NM_000179.3

p.K920insFs

c.2758_2759insCC

2 papers

NM_000179.3

p.K920fs

c.2758_2759fs

1 paper

NM_000179.3

p.E919G

c.2756A>G

1 paper

NM_000179.3

p.K920fs

c.2758_2759fs

1 paper

NM_000179.3

p.K920insFs

c.2759dupA

1 paper

NM_000179.3

p.E919fs

c.2755_2756fs

5 papers

NM_000179.3

p.K920delFs

c.2759delA

1 paper

NM_000179.3

p.H918_E919insFs

c.2754_2755insC

1 paper

NM_000179.3

p.H918R

c.2753A>G

2 papers

NM_000179.3

p.A921T

c.2761G>A

1 paper

NM_000179.3

p.A921fs

c.2761_2762fs