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.H501ins2

c.1502_1503ins6

Surrounding Variants

1 paper

NM_000179.3

p.H501fs

c.1501_1502fs

5 papers

NM_000179.3

p.H501Y

c.1501C>T

1 paper

NM_000179.3

p.H501fs

c.1501_1502fs

1 paper

NM_000179.3

p.H501_K504delFs

c.1502_1511del10

1 paper

NM_000179.3

p.H501insFs

c.1503dupT

1 paper

NM_000179.3

p.H501ins2

c.1502_1503ins6

1 paper

NM_000179.3

p.H501R

c.1502A>G

1 paper

NM_000179.3

p.I502fs

c.1504_1505fs

1 paper

NM_000179.3

p.I502V

c.1504A>G

1 paper

NM_000179.3

p.A500insFs

c.1499dupC

1 paper

NM_000179.3

p.A500fs

c.1498_1499fs

2 papers

NM_000179.3

p.I502T

c.1505T>C