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.L2226delFs

c.6677_6678delTA

Surrounding Variants

1 paper

NM_000051.4

p.L2226insFs

c.6677dupT

2 papers

NM_000051.4

p.L2226fs

c.6676_6677fs

2 papers

NM_000051.4

p.L2226P

c.6677T>C

1 paper

NM_000051.4

p.R2227_T2228del2

c.6679_6683del6

3 papers

NM_000051.4

p.L2226L

c.6678A>G

1 paper

NM_000051.4

p.A2225V

c.6674C>T

1 paper

NM_000051.4

p.R2227S

c.6679C>A

1 paper

NM_000051.4

p.R2227G

c.6679C>G

71 papers

NM_000051.4

p.R2227C

c.6679C>T

3 papers

NM_000051.4

p.A2225T

c.6673G>A

1 paper

NM_000051.4

p.A2225P

c.6673G>C

1 paper

NM_000051.4

p.A2225S

c.6673G>T