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.P1374L

c.4121C>T

Surrounding Variants

1 paper

NM_000051.4

p.P1374A

c.4120C>G

2 papers

NM_000051.4

p.P1374S

c.4120C>T

2 papers

NM_000051.4

p.A1375P

c.4123G>C

1 paper

NM_000051.4

p.A1375V

c.4124C>T

1 paper

NM_000051.4

p.D1373N

c.4117G>A

1 paper

NM_000051.4

p.D1373Y

c.4117G>T

1 paper

NM_000051.4

p.P1376A

c.4126C>G

1 paper

NM_000051.4

p.P1376S

c.4126C>T

5 papers

NM_000051.4

p.P1376R

c.4127C>G

2 papers

NM_000051.4

p.L1372V

c.4114T>G

1 paper

NM_000051.4

p.N1377_P1378insA

c.4129_4133ins3

2 papers

NM_000051.4

p.N1377D

c.4129A>G