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

2 papers

NM_000179.3

p.K603*

c.1807A>T

Surrounding Variants

1 paper

NM_000179.3

p.K603fs

c.1807_1808fs

1 paper

NM_000179.3

p.S602S

c.1806A>C

1 paper

NM_000179.3

p.K603R

c.1808A>G

1 paper

NM_000179.3

p.K603M

c.1808A>T

7 papers

NM_000179.3

p.S602*

c.1805C>A

6 papers

NM_000179.3

p.S602*

c.1805C>G

1 paper

NM_000179.3

p.S602L

c.1805C>T

11 papers

NM_000179.3

p.S602_K603delFs

c.1806_1809del4

1 paper

NM_000179.3

p.K603K

c.1809G>A

1 paper

NM_000179.3

p.E604K

c.1810G>A

1 paper

NM_000179.3

p.E604_T605insFs

c.1812_1813insA

2 papers

NM_000179.3

p.E604fs

c.1810_1811fs