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

3 papers

NM_000179.3

p.K888fs

c.2662_2663fs

Surrounding Variants

1 paper

NM_000179.3

p.K888fs

c.2662_2663fs

2 papers

NM_000179.3

p.K888*

c.2662A>T

1 paper

NM_000179.3

p.K888delFs

c.2662_2663delAA

2 papers

NM_000179.3

p.Q889insFs

c.2665dupC

1 paper

NM_000179.3

p.L887Fs

c.2661delinsATFs

2 papers

NM_000179.3

p.Q889fs

c.2665_2666fs

1 paper

NM_000179.3

p.Q889_V890insAT

c.2665_2669ins6

5 papers

NM_000179.3

p.Q889*

c.2665C>T

1 paper

NM_000179.3

p.Q889P

c.2666A>C

6 papers

NM_000179.3

p.Q889H

c.2667G>C

6 papers

NM_000179.3

p.Q889H

c.2667G>T

1 paper

NM_000179.3

p.L887delFs

c.2659delC