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.E2880K

c.8638G>A

Surrounding Variants

1 paper

NM_000051.4

p.E2880*

c.8638G>T

1 paper

NM_000051.4

p.S2882_A2883delFs

c.8644_8647del4

7 papers

NM_000051.4

p.Q2881*

c.8641C>T

1 paper

NM_000051.4

p.S2882_L2885delFs

c.8645_8655del11

4 papers

NM_000051.4

p.I2878R

c.8633T>G

1 paper

NM_000051.4

p.I2878V

c.8632A>G

1 paper

NM_000051.4

p.S2882P

c.8644T>C

1 paper

NM_000051.4

p.S2882fs

c.8644_8645fs

1 paper

NM_000051.4

p.S2882*

c.8645C>G

1 paper

NM_000051.4

p.S2882L

c.8645C>T

2 papers

NM_000051.4

p.L2877L

c.8631G>A

9 papers

NM_000051.4

p.L2877F

c.8631G>C