Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000051.4

p.S226C

c.677C>G

Surrounding Variants

4 papers

NM_000051.4

p.S226F

c.677C>T

1 paper

NM_000051.4

p.S226_G228delFs

c.677_684del8

1 paper

NM_000051.4

p.S227P

c.679T>C

1 paper

NM_000051.4

p.S227fs

c.679_680fs

2 papers

NM_000051.4

p.S227*

c.680C>A

1 paper

NM_000051.4

p.S227insFs

c.681dupA

1 paper

NM_000051.4

p.S227insFs

c.680_681insGA

1 paper

NM_000051.4

p.S227*

c.680C>G

8 papers

NM_000051.4

p.S227L

c.680C>T

2 papers

NM_000051.4

p.S225N

c.674G>A

1 paper

NM_000051.4

p.S225I

c.674G>T

1 paper

NM_000051.4

p.S225G

c.673A>G