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.E332fs

c.994_995fs

Surrounding Variants

2 papers

NM_000179.3

p.E332K

c.994G>A

1 paper

NM_000179.3

p.E332fs

c.994_995fs

2 papers

NM_000179.3

p.E332delFs

c.994delG

1 paper

NM_000179.3

p.S331L

c.992C>T

1 paper

NM_000179.3

p.T333A

c.997A>G

1 paper

NM_000179.3

p.S331_E332insTA

c.991_995ins6

1 paper

NM_000179.3

p.S330S

c.990A>T

7 papers

NM_000179.3

p.T333I

c.998C>T

2 papers

NM_000179.3

p.S330*

c.989C>A

2 papers

NM_000179.3

p.S330*

c.989C>G

1 paper

NM_000179.3

p.K334fs

c.1000_1001fs

1 paper

NM_000179.3

p.K334delFs

c.1001_1002delAG