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

2 papers

NM_000051.4

p.I2311F

c.6931A>T

Surrounding Variants

1 paper

NM_000051.4

p.I2311V

c.6931A>G

1 paper

NM_000051.4

p.L2312delFs

c.6934delC

2 papers

NM_000051.4

p.L2312I

c.6934C>A

4 papers

NM_000051.4

p.L2312fs

c.6934_6935fs

1 paper

NM_000051.4

p.L2312insFs

c.6935dupT

3 papers

NM_000051.4

p.L2312F

c.6934C>T

3 papers

NM_000051.4

p.L2312P

c.6935T>C

1 paper

NM_000051.4

p.K2313fs

c.6937_6938fs

1 paper

NM_000051.4

p.L2309V

c.6925C>G

3 papers

NM_000051.4

p.A2308V

c.6923C>T

1 paper

NM_000051.4

p.Q2314delFs

c.6942delA

1 paper

NM_000051.4

p.A2308T

c.6922G>A